Author:
Lev Atar,Somech Raz,Somekh Ido
Abstract
Purpose of review
Severe combined immune deficiency (SCID) is the most devastating genetic disease of the immune system with an unfavorable outcome unless diagnosed early in life. Newborn screening (NBS) programs play a crucial role in facilitating early diagnoses and timely interventions for affected infants.
Recent findings
SCID marked the pioneering inborn error of immunity (IEI) to undergo NBS, a milestone achieved 15 years ago through the enumeration of T-cell receptor excision circles (TRECs) extracted from Guthrie cards. This breakthrough has revolutionized our approach to SCID, enabling not only presymptomatic identification and prompt treatments (including hematopoietic stem cell transplantation), but also enhancing our comprehension of the global epidemiology of SCID.
Summary
NBS is continuing to evolve with the advent of novel diagnostic technologies and treatments. Following the successful implementation of SCID-NBS programs, a call for the early identification of additional IEIs is the next step, encompassing a broader spectrum of IEIs, facilitating early diagnoses, and preventing morbidity and mortality.
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Pediatrics, Perinatology and Child Health
Reference87 articles.
1. Infants with congenital disorders identified through newborn screening - United States, 2015–2017;Sontag;MMWR Morb Mortal Wkly Rep,2020
2. Centers for Disease C, Prevention. Ten great public health achievements--United States, 2001–2010;MMWR Morb Mortal Wkly Rep,2011
3. Newborn screening: from Guthrie to whole genome sequencing;Caggana;Public Health Rep,2013
4. Using tandem mass spectrometry for metabolic disease screening among newborns. A report of a work group;MMWR Recomm Rep,2001
5. Centers for Disease C, Prevention. Impact of expanded newborn screening--United States, 2006;MMWR Morb Mortal Wkly Rep,2008